This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
Transcription factors with Perturb-seq knockdown data for PFN1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = PFN1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of PFN1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr17:4,703,669–4,704,637 | 244.4 kb | Distal (>10kb) Multiome | 854 | |
| chr17:4,708,553–4,709,232 | 239.8 kb | Distal (>10kb) Multiome | 71 | |
| chr17:4,709,724–4,711,094 | 238.1 kb | Distal (>10kb) Multiome | 771 | |
| chr17:4,730,794–4,732,115 | 216.9 kb | Distal (>10kb) Multiome | 936 | |
| chr17:4,745,124–4,745,511 | 203.1 kb | Distal (>10kb) Multiome | 67 | |
| chr17:4,789,618–4,790,520 | 158.3 kb | Distal (>10kb) Multiome | 816 | |
| chr17:4,795,974–4,796,433 | 152.4 kb | Distal (>10kb) Multiome | 751 | |
| chr17:4,806,693–4,807,619 | 141.4 kb | Distal (>10kb) Multiome | 494 | |
| chr17:4,832,863–4,833,956 | 115.2 kb | Distal (>10kb) Multiome | 730 | |
| chr17:4,898,962–4,900,112 | 49.1 kb | Distal (>10kb) Multiome | 257 | |
| chr17:4,900,249–4,901,057 | 47.7 kb | Distal (>10kb) Multiome | 145 | |
| chr17:4,909,117–4,909,538 | 39.3 kb | Distal (>10kb) Multiome | 553 | |
| chr17:4,939,475–4,941,034 | 8.4 kb | Proximal (<10kb) Multiome | 821 | |
| chr17:4,947,426–4,950,636 | 1.6 kb | Proximal (<10kb) Multiome | 1080 | |
| chr17:4,966,739–4,968,875 | 19.0 kb | Distal (>10kb) Multiome | 982 | |
| chr17:4,986,950–4,987,983 | 39.0 kb | Distal (>10kb) Multiome | 881 | |
| chr17:4,996,838–4,998,964 | 49.2 kb | Distal (>10kb) Multiome | 759 | |
| chr17:5,031,487–5,032,081 | 83.2 kb | Distal (>10kb) Multiome | 342 | |
| chr17:5,111,339–5,112,612 | 163.4 kb | Distal (>10kb) Multiome | 864 | |
| chr17:5,191,578–5,192,305 | 243.4 kb | Distal (>10kb) Multiome | 771 |
Genomic view of the PFN1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.